Talk:Thanatophoric dysplasia

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edit·history·watch·refresh Stock post message.svg To-do list for Thanatophoric dysplasia:

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Priority 9

U.S. National Library of Medicine acknowledgement[edit]

Initial content for this article was sourced from the U.S. National Library of Medicine at http://ghr.nlm.nih.gov/condition=thanatophoricdysplasia (circa 23/03/2005). NLM is in the public domain [1], but NLM "request that in any subsequent use the National Library of Medicine (NLM) be given appropriate acknowledgement". This notice forms the requested acknowledgement, with thanks. --Tagishsimon (talk)

With thanks indeed, to you too Tagishsimon. I dreaded creating this page, but now that I have some starting source I may be able to expand it. Any other sources you found that I could work with?Professor Ninja 17:59, 23 Mar 2005 (UTC)

frequency of occurence[edit]

This article states that thanatophoric dysplasia occurs 1:60000 births, while the article for Thanatos states that it occurs once every 6400-16700 births. Which is correct?

I've edited the part about ratio because the article incorrectly quotes a source which is about a more general list of malformations, including thanatophoric dysplasia. Also note that the rate in Fallujah, Irak, is 5 / 6 049 but this is not representative of course ! Depleted uranium http://jima.imana.org/article/view/10463 see my website www.assopyrophor.org for more on uranium and its effects --FlorentPirot (talk) 09:32, 8 May 2017 (UTC)

Not necessarily inherited![edit]

"Thanatophoric dysplasia is a severe inherited skeletal disorder [...]" (Paragraph 1, Line 1) - The genetic defect is not necessarily inherited. In fact, more than 80% of thanatophoric displasia is a spontaneous mutation in the FGFR3 (fibroblast growth factor receptor-3) on chromosome 4 p16.3. IF the defect is inherited, however, it is autosomal dominant. --Jsteenbuck (talk) 21:34, 9 May 2009 (UTC)

Prognosis[edit]

Someone changed the prognosis section from "Children with this condition are usually stillborn..." to "Children with this condition are sometimes stillborn..." and added "If prematurity is not too severe, a child born with thanatophoric dysplasia who receives ventilator support from birth has a good chance of survival.". I am reverting these changes as they are not supported by the quoted sources or any other literature I can find (in fact, everything I can find directly contradicts this).2.97.66.157 (talk) 23:17, 26 June 2013 (UTC)

The use of the words "male" and "female" was really creepy and I changed it. The repeated use of "male/female" is odd and makes these children/people seem like lab specimens. They're people, however strange their condition may be.

Links[edit]

Should a category be created (with this article linked to it) to congenital birth defects? 68.165.84.106 (talk) 20:35, 28 July 2013 (UTC)

Yes ! --FlorentPirot (talk) 09:29, 8 May 2017 (UTC)

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